{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T09:36:11Z","timestamp":1761989771972,"version":"3.37.3"},"reference-count":0,"publisher":"Maad Rayan Publishing Company","issue":"4","content-domain":{"domain":["journalaim.com"],"crossmark-restriction":false},"short-container-title":["Arch Iran Med"],"published-print":{"date-parts":[[2024,4,1]]},"abstract":"<jats:p>Hereditary sensory autonomic neuropathy type VIII (HSAN-VIII) is a rare genetic disease that occurs due to mutations in the PRDM12 gene. Here, we describe a novel homozygous mutation c.826_840dupTGCAACCGCCGCTTC (p.Cys276_Phe280dup) on exon 5 in the PRDM12 gene identified by WES and confirmed using Sanger sequencing method.<\/jats:p>","DOI":"10.34172\/aim.2024.32","type":"journal-article","created":{"date-parts":[[2024,4,29]],"date-time":"2024-04-29T10:56:15Z","timestamp":1714388175000},"page":"223-226","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a Novel Homozygous Mutation in <i>PRDM12<\/i> Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII"],"prefix":"10.34172","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9132-1798","authenticated-orcid":true,"given":"Amir Hossein","family":"Ebrahimi","sequence":"first","affiliation":[{"name":"Ariagene Medical Genetics Laboratory, Qom, Iran"},{"name":"Department of Cellular and Molecular Genetics, Islamic Azad University Qom Branch, Qom, 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